| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001953.5:c.1190T>A | 3 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603041.1.1 | Tunisia | Cachexia; Peripheral neuropathy; Myopathy; Short stature; Tachycardia; Delayed puberty; Abnormal facial shape; Leukoencephalopathy; Increased circulating lactate concentration | Female | Yes | Yes | Patient "P1" in the publication |
| 603041.1.2 | Tunisia | Cachexia; Short stature; Abnormal facial shape; Increased circulating lactate concentration; Cardiomyopathy; Diabetes mellitus; Muscle weakness | Male | Yes | Yes | Brother of 603041.1.1. Phenotypic variability noted in this patient compared to his sibling could be atrributed to variants in MTND3 and MTND4. |